scholarly journals Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

2021 ◽  
Vol 24 (1) ◽  
pp. 15-20
Author(s):  
L Aidinidou ◽  
A Chatzikyriakidou ◽  
A Giannopoulos ◽  
V Karpa ◽  
I Tzimou ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gene Polymorphism ◽  
Gene Polymorphisms ◽  
Congenital Heart ◽  
Statistical Significance ◽  
Structural Defects ◽  
Chd Risk ◽  
Great Vessels ◽  
Vessel Development

Abstract Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.

Maternal TCN1 (rs526934) G>A Gene Polymorphism and its Association with Congenital Heart Disease (CHD)

2020 ◽  
Vol 03 (04) ◽  
Author(s):  
Sunitha Tella ◽  
Shehnaz Sultana ◽  
Venkateshwari Ananthapur ◽  
Nageshwar Rao K ◽  
Jyothy Akka ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gene Polymorphism ◽  
Congenital Heart

scholarly journals Neighbourhood maternal socioeconomic status indicators and risk of congenital heart disease

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qun Miao ◽  
Sandra Dunn ◽  
Shi Wu Wen ◽  
Jane Lougheed ◽  
Jessica Reszel ◽  
...  
Keyword(s):  
Socioeconomic Status ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Household Income ◽  
Congenital Heart ◽  
Population Based ◽  
Income Poverty ◽  
Lower Odds ◽  
Logistic Regression Models ◽  
Chd Risk

Abstract Background This study aimed to examine the relationships between various maternal socioeconomic status (SES) indicators and the risk of congenital heart disease (CHD). Methods This was a population-based retrospective cohort study, including all singleton stillbirths and live births in Ontario hospitals from April 1, 2012 to March 31, 2018. Multivariable logistic regression models were performed to examine the relationships between maternal neighbourhood household income, poverty, education level, employment and unemployment status, immigration and minority status, and population density and the risk of CHD. All SES variables were estimated at a dissemination area level and categorized into quintiles. Adjustments were made for maternal age at birth, assisted reproductive technology, obesity, pre-existing maternal health conditions, substance use during pregnancy, rural or urban residence, and infant’s sex. Results Of 804,292 singletons, 9731 (1.21%) infants with CHD were identified. Compared to infants whose mothers lived in the highest income neighbourhoods, infants whose mothers lived in the lowest income neighbourhoods had higher likelihood of developing CHD (adjusted OR: 1.29, 95% CI: 1.20–1.38). Compared to infants whose mothers lived in the neighbourhoods with the highest percentage of people with a university or higher degree, infants whose mothers lived in the neighbourhoods with the lowest percentage of people with university or higher degree had higher chance of CHD (adjusted OR: 1.34, 95% CI: 1.24–1.44). Compared to infants whose mothers lived in the neighbourhoods with the highest employment rate, the odds of infants whose mothers resided in areas with the lowest employment having CHD was 18% higher (adjusted OR: 1.18, 95% CI: 1.10–1.26). Compared to infants whose mothers lived in the neighbourhoods with the lowest proportion of immigrants or minorities, infants whose mothers resided in areas with the highest proportions of immigrants or minorities had 18% lower odds (adjusted OR: 0.82, 95% CI: 0.77–0.88) and 16% lower odds (adjusted OR: 0.84, 95% CI: 0.78–0.91) of CHD, respectively. Conclusion Lower maternal neighbourhood household income, poverty, lower educational level and unemployment status had positive associations with CHD, highlighting a significant social inequity in Ontario. The findings of lower CHD risk in immigrant and minority neighbourhoods require further investigation.

HEMANGIOMA OF THE LIVER WITH HEART FAILURE: A CASE REPORT

PEDIATRICS ◽  
1954 ◽  
Vol 14 (2) ◽  
pp. 117-121
Author(s):  
ROBERT W. WINTERS ◽  
SAUL J. ROBINSON ◽  
GEORGE BATES
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Cardiac Hypertrophy ◽  
Cardiac Failure ◽  
Congenital Heart ◽  
Signs And Symptoms ◽  
Post Mortem ◽  
Great Vessels

A case of multiple hemangiomata of the liver is reported in an infant who presented signs and symptoms strongly suggesting congenital heart disease. The post mortem examination revealed no gross anomalies of the heart or great vessels, but did show a heart with cardiac hypertrophy. A mechanism to explain the cardiac failure in this case is discussed.

Impact of 3D Printouts in Optimizing Surgical Results for Complex Congenital Heart Disease

2019 ◽  
Vol 10 (5) ◽  
pp. 533-538 ◽  
Author(s):  
Frank Han ◽  
Jennifer Co-Vu ◽  
Dalia Lopez-Colon ◽  
John Forder ◽  
Mark Bleiweis ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Surgical Outcomes ◽  
Congenital Heart ◽  
Heart Defects ◽  
Statistical Significance ◽  
Three Dimensional ◽  
3D Models ◽  
Palliative Surgery ◽  
Complex Congenital Heart Disease

Planning corrective and palliative surgery for patients who have complex congenital heart disease often relies on the assessment of cardiac anatomy using two-dimensional noninvasive cardiac imaging modalities (echocardiography, cardiac magnetic resonance imaging, and computed tomography scan). Advances in cardiac noninvasive imaging now include the use of three-dimensional (3D) reconstruction tools that produce 3D images and 3D printouts. There is scant evidence available in the literature as to what effect the availability of 3D printouts of complex congenital heart defects has on surgical outcomes. Surgical outcomes of study subjects with a 3D cardiac printout available and their paired control subject without a 3D cardiac printout available were compared. We found a trend toward shorter surgical times in the study group who had the benefit of 3D models, but no statistical significance was found for bypass time, cross-clamp time, total time, length of stay, or respiratory support. These preliminary results support the proposal that 3D modeling be made readily available to congenital cardiac surgery teams, for use in patients with the most complex congenital heart disease.

Association of maternal dietary intakes and CBS gene polymorphisms with congenital heart disease in offspring

2021 ◽  
Vol 322 ◽  
pp. 121-128
Author(s):  
Yihuan Li ◽  
Jingyi Diao ◽  
Jinqi Li ◽  
Liu Luo ◽  
Lijuan Zhao ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gene Polymorphisms ◽  
Congenital Heart ◽  
Dietary Intakes

scholarly journals DNA methylation abnormalities of imprinted genes in congenital heart disease: A pilot study

2020 ◽  
Author(s):  
Shaoyan Chang ◽  
Yubo Wang ◽  
Yu Xin ◽  
Shuangxing Wang ◽  
Yi Luo ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Embryonic Development ◽  
Methylation Level ◽  
Congenital Heart ◽  
Imprinted Genes ◽  
Healthy Children ◽  
Chd Risk ◽  
Different Types ◽  
Genetic Aberration

Abstract Background: Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal embryonic development. However, the role of imprinted genes in the etiology of CHD remains unclear. Results: We investigated the alterations effect of imprinted gene gDMR methylation in patients with CHD. Eighteen imprinted genes that are known to affect early embryonic development were selected and the methylation modification genes were detected by massarray in 27 CHD children and 28 healthy children. Altered gDMR methylation level of 8 imprinted genes was found, including 2 imprinted genes with hypermethylation of GRB10 and MEST and 6 genes with hypomethylation of PEG10, NAP1L5, INPP5F, PLAGL1, NESP and MEG3. Stratified analysis showed that the methylation degree of imprinted genes was different in different types of CHD. Risk analysis showed that 6 imprinted genes, except MEST and NAP1L5, within a specific methylation level range were the risk factors for CHDConclusion: Altered methylation of imprinted genes is associated with CHD and varies in different types of CHD. Further experiments are warranted to identify the methylation characteristics of imprinted genes in different types of CHD and clarify the pathogenesis mechanism of imprinted genes in CHD.

scholarly journals Pretriscuspid shunt and Eisenmenger syndrome: a deadly combination

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
J Playan Escribano ◽  
T Segura De La Cal ◽  
L Dos Subira ◽  
M Lazaro Salvador ◽  
J.A Barbera Mir ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Statistical Significance ◽  
Functional Class ◽  
Clinical Group ◽  
Funding Source ◽  
Eisenmenger Syndrome ◽  
Confounding Variables ◽  
The Impact

Abstract Introduction Pulmonary arterial hypertension (PAH) is a common comorbidity in congenital heart disease (CHD) and significantly affects prognosis. Our aim was to investigate how the location of the shunt influences the outcome of these patients. Methods The REHAP registry is a Spanish multicentre voluntary registry of patients over 14 years of age, which includes patients with congenital heart disease and PAH, starting in 2007. Baseline characteristics, functional class, right catheterization data, treatment and survival were compared. We performed a cox regression model for assessing the impact of the type of shunt on prognosis, after looking for confusing and effect modifying variables. Results 664 patients were analyzed, their characteristics are detailed in the table. Mean follow up time was 10 years. We performed a survival analysis adjusted for the confounding variables: age (Hazard ratio (HR) 1.02 p<0.001), functional class (HR 2.45 p 0.001) and clinical group. The clinical group was also an effect-modifying variable, which means there is no unique effect (HR) of the type of shunt, instead it depends on the clinical group. We did a multiple regression analysis, adjusting for the confounding variables, to calculate the HR for each clinical group: in patients with Eisenmenger syndrome, the HR is 0.27 (p<0.001) for simple posttricuspid shunt and HR 0.38 (p<0.001) for complex posttricuspid shunt (reference group: pretricuspid shunt). In the others clinical groups, the type of shunt did not reach statistical significance. Conclusion The type of shunt significantly affects prognosis in Eisenmenger patients, with a much worse outcome for those with pretricuspid shunts. Functional class and clinical group are also closely related to outcome. Funding Acknowledgement Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): MSD, GSK

CONGESTIVE HEART FAILURE

PEDIATRICS ◽  
1956 ◽  
Vol 18 (3) ◽  
pp. 491-500 ◽  
Author(s):  
John D. Keith
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Heart Muscle ◽  
Congenital Heart ◽  
Heart Defects ◽  
Age At Onset ◽  
Pericardial Disease ◽  
Great Vessels

HEART failure is associated with an inability of the heart to empty itself adequately, with the result that there is a high venous filling pressure and a decrease in the effective work done by the heart muscle. There are several factors that, if sufficiently severe, will produce congestive heart failure in either infancy or childhood. These include valvular obstruction or insufficiency; mechanical obstruction of the heart as a whole, as in pericardial disease; the physical effects of large intracardiac shunts which increase the load on one or both ventricles; the presence of raised pressure in the pulmonary or systemic circulation; inflammatory reactions in the heart muscle or oxygen lack; and, finally, certain metabolic disturbances, such as hyperthyroidism or hypothyroidism. One or more of these factors may be operating in the same child, as in rheumatic fever where myocarditis is associated with valvular insufficiency, or in congenital heart disease with pulmonary stenosis and patent foramen ovale, where the right ventricle has a high pressure to maintain and is at the same time being offered cyanotic blood from the coronaries. PATIENT MATERIAL In analyzing 1,580 cases of congenital heart disease at the Hospital for Sick Children, Toronto, 20 per cent were found to have had failure at some time. In 90 per cent of these failure occurred in the first year of life. A list of the various causes of heart failure in the pediatric age group in order of frequency follows. [see table in source pdf] In certain types of heart defects failure develops in characteristic age groups. For example, during the first week of life the most common cause of heart failure is aortic atresia. From 1 week to 1 month, coarctation of the aorta leads. From 1 to 2 months, transposition of the great vessels predominates. From 2 to 3 months, endocardial fibroelastosis is the chief cause of heart failure, with transportation of the great vessels second to it. The actual incidence of type of heart defect in relation to age at onset of heart failure is as follows.

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